Genetic architecture, epigenetic influence and environment exposure in the pathogenesis of Autism

• Published in: Science China. Life sciences 2015-10, Vol.58 (10), p.958-967
• Main Authors: Yu, Li, Wu, YiMing, Wu, Bai-Lin
• Format: Article
• Language: English
• Subjects: Autistic Disorder - etiology; Autistic Disorder - genetics; Biomedical and Life Sciences; Chromatin Assembly and Disassembly; DNA Copy Number Variations; DNA甲基化; Environmental Exposure; Epigenesis, Genetic; Humans; Internet; Life Sciences; Mutation; Review; RNA, Long Noncoding - genetics; 发病机制; 基因组学; 孤独; 环境暴露; 表观遗传学; 遗传结构; 非编码RNA
• ISSN: 1674-7305; 1869-1889
• DOI: 10.1007/s11427-015-4941-1

Autism spectrum disorder （ASD） is a spectral neurodevelopment disorder affecting approximately 1% of the population. ASD is characterized by impairments in reciprocal social interaction, communication deficits and restricted patterns of behavior. Multiple factors, including genetic/genomic, epigenetic/epigenomic and environmental, are thought to be necessary for autism development. Recent reviews have provided further insight into the genetic/genomic basis of ASD. It has long been suspected that epigenetic mechanisms, including DNA methylation, chromatin structures and long non-coding RNAs may play important roles in the pathology of ASD. In addition to genetic/genomic alterations and epigenetic/epigenomic influences, environmental exposures have been widely accepted as an important role in autism etiology, among which immune dysregulation and gastrointestinal microbiota are two prominent ones.